Synchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.

Hdl Handle:
http://hdl.handle.net/10147/207508
Title:
Synchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.
Authors:
Canney, A; Sheahan, K; Keegan, D; Tolan, M; Hyland, J; Green, A
Affiliation:
Department of Histopathology, St Vincent's University Hospital, Elm Park, Dublin,, Ireland. aoife_canney@hotmail.com
Citation:
J Clin Pathol. 2009 May;62(5):471-3.
Journal:
Journal of clinical pathology
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207508
DOI:
10.1136/jcp.2008.063008
PubMed ID:
19398597
Abstract:
Mutations of DNA mismatch repair genes are characterised by microsatellite instability and are implicated in carcinogenesis. This mutation susceptible phenotype has been extensively studied in patients with hereditary non-polyposis colon carcinoma, but little is known of the contribution of such mutations in other tumour types, particularly non-small-cell lung carcinoma. This report describes the occurrence of two synchronous lung tumours, one mimicking a metastatic colon carcinoma, in a male patient with a history of metachronous colonic carcinoma. Immunohistochemistry supported a pulmonary origin for both lesions. Mismatch repair protein immunohistochemistry showed loss of MSH2 and MSH6 expression in both colonic tumours and in one lung tumour showing enteric differentiation. Subsequent mutational analysis demonstrated a deleterious germline mutation of the MSH2 mismatch repair gene. The significance of these findings and the practical diagnostic difficulties encountered in this case are discussed.
Language:
eng
MeSH:
Adenocarcinoma/*genetics/pathology; Colorectal Neoplasms/*genetics; DNA Mutational Analysis/methods; *Germ-Line Mutation; Humans; Lung Neoplasms/*genetics/pathology; Male; Middle Aged; MutS Homolog 2 Protein/*genetics; Neoplasms, Multiple Primary/*genetics/pathology; Pedigree
ISSN:
1472-4146 (Electronic); 0021-9746 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorCanney, Aen_GB
dc.contributor.authorSheahan, Ken_GB
dc.contributor.authorKeegan, Den_GB
dc.contributor.authorTolan, Men_GB
dc.contributor.authorHyland, Jen_GB
dc.contributor.authorGreen, Aen_GB
dc.date.accessioned2012-02-01T10:29:49Z-
dc.date.available2012-02-01T10:29:49Z-
dc.date.issued2012-02-01T10:29:49Z-
dc.identifier.citationJ Clin Pathol. 2009 May;62(5):471-3.en_GB
dc.identifier.issn1472-4146 (Electronic)en_GB
dc.identifier.issn0021-9746 (Linking)en_GB
dc.identifier.pmid19398597en_GB
dc.identifier.doi10.1136/jcp.2008.063008en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207508-
dc.description.abstractMutations of DNA mismatch repair genes are characterised by microsatellite instability and are implicated in carcinogenesis. This mutation susceptible phenotype has been extensively studied in patients with hereditary non-polyposis colon carcinoma, but little is known of the contribution of such mutations in other tumour types, particularly non-small-cell lung carcinoma. This report describes the occurrence of two synchronous lung tumours, one mimicking a metastatic colon carcinoma, in a male patient with a history of metachronous colonic carcinoma. Immunohistochemistry supported a pulmonary origin for both lesions. Mismatch repair protein immunohistochemistry showed loss of MSH2 and MSH6 expression in both colonic tumours and in one lung tumour showing enteric differentiation. Subsequent mutational analysis demonstrated a deleterious germline mutation of the MSH2 mismatch repair gene. The significance of these findings and the practical diagnostic difficulties encountered in this case are discussed.en_GB
dc.language.isoengen_GB
dc.subject.meshAdenocarcinoma/*genetics/pathologyen_GB
dc.subject.meshColorectal Neoplasms/*geneticsen_GB
dc.subject.meshDNA Mutational Analysis/methodsen_GB
dc.subject.mesh*Germ-Line Mutationen_GB
dc.subject.meshHumansen_GB
dc.subject.meshLung Neoplasms/*genetics/pathologyen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshMutS Homolog 2 Protein/*geneticsen_GB
dc.subject.meshNeoplasms, Multiple Primary/*genetics/pathologyen_GB
dc.subject.meshPedigreeen_GB
dc.titleSynchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation.en_GB
dc.contributor.departmentDepartment of Histopathology, St Vincent's University Hospital, Elm Park, Dublin,, Ireland. aoife_canney@hotmail.comen_GB
dc.identifier.journalJournal of clinical pathologyen_GB
dc.description.provinceLeinster-

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